← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-49524234-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=49524234&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 49524234,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000124.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "NM_000124.4",
"protein_id": "NP_000115.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 1493,
"cds_start": 1196,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355832.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000124.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "ENST00000355832.10",
"protein_id": "ENSP00000348089.5",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 1493,
"cds_start": 1196,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000124.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355832.10"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "NM_001277058.2",
"protein_id": "NP_001263987.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1196,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000447839.7",
"biotype": "protein_coding",
"feature": "NM_001277058.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "ENST00000447839.7",
"protein_id": "ENSP00000387966.2",
"transcript_support_level": 2,
"aa_start": 399,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1196,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001277058.2",
"biotype": "protein_coding",
"feature": "ENST00000447839.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "NM_001346440.2",
"protein_id": "NP_001333369.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 1493,
"cds_start": 1196,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346440.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "ENST00000898255.1",
"protein_id": "ENSP00000568314.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 1493,
"cds_start": 1196,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898255.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "ENST00000681659.1",
"protein_id": "ENSP00000505631.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 1440,
"cds_start": 1196,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681659.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "ENST00000898256.1",
"protein_id": "ENSP00000568315.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 1440,
"cds_start": 1196,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898256.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "NM_001277059.2",
"protein_id": "NP_001263988.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1196,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277059.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp",
"transcript": "ENST00000515869.1",
"protein_id": "ENSP00000423550.1",
"transcript_support_level": 2,
"aa_start": 399,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1196,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515869.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGBD3",
"gene_hgnc_id": 19400,
"hgvs_c": "c.-209G>A",
"hgvs_p": null,
"transcript": "NM_170753.3",
"protein_id": "NP_736609.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": null,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170753.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "c.652+4183G>A",
"hgvs_p": null,
"transcript": "ENST00000680107.1",
"protein_id": "ENSP00000505909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680107.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "n.*825G>A",
"hgvs_p": null,
"transcript": "ENST00000679596.1",
"protein_id": "ENSP00000504862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "n.1279G>A",
"hgvs_p": null,
"transcript": "ENST00000679811.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679811.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "n.1289G>A",
"hgvs_p": null,
"transcript": "ENST00000680233.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "n.1274G>A",
"hgvs_p": null,
"transcript": "ENST00000681632.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"hgvs_c": "n.*825G>A",
"hgvs_p": null,
"transcript": "ENST00000679596.1",
"protein_id": "ENSP00000504862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679596.1"
}
],
"gene_symbol": "ERCC6",
"gene_hgnc_id": 3438,
"dbsnp": "rs2228528",
"frequency_reference_population": 0.17600165,
"hom_count_reference_population": 27994,
"allele_count_reference_population": 284048,
"gnomad_exomes_af": 0.175709,
"gnomad_genomes_af": 0.178817,
"gnomad_exomes_ac": 256860,
"gnomad_genomes_ac": 27188,
"gnomad_exomes_homalt": 25219,
"gnomad_genomes_homalt": 2775,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00014212727546691895,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0749,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.139,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000124.4",
"gene_symbol": "ERCC6",
"hgnc_id": 3438,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Gly399Asp"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_170753.3",
"gene_symbol": "PGBD3",
"hgnc_id": 19400,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-209G>A",
"hgvs_p": null
}
],
"clinvar_disease": "COFS syndrome,Cerebrooculofacioskeletal syndrome 1,Cockayne syndrome,Cockayne syndrome type 2,DE SANCTIS-CACCHIONE SYNDROME,Macular degeneration,UV-sensitive syndrome 1,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:12",
"phenotype_combined": "not specified|Macular degeneration|Cockayne syndrome|COFS syndrome|DE SANCTIS-CACCHIONE SYNDROME|not provided|UV-sensitive syndrome 1|Cockayne syndrome type 2|Cerebrooculofacioskeletal syndrome 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}